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Prestigious award bestowed for genomic discovery

By Nicole Davis, Communications,
April 14th, 2008

Charles Lee, an assistant professor at Brigham and Women’s Hospital and Harvard Medical School and an associate member at the Broad Institute of MIT and Harvard, has been awarded the 2008 Ho-Am Prize in Medicine. The award recognizes Lee’s fundamental contributions to the identification and understanding of copy number variation — a form of genetic variation in which stretches of the human genome are present in excess copies or missing altogether.

“Charles is one of the world's leading scientists studying copy number variation in the human genome — a field he helped create with a seminal paper in 2004,” said David Altshuler, director of the Program in Medical and Population Genetics at the Broad Institute. “We are thrilled at this well-deserved honor and very proud to count him among the Broad's associate members.”

Just a few years ago, the lion’s share of genetic variability among people — about 0.1% of the genome — was thought to arise from single letter changes in the genetic code, known as single nucleotide polymorphisms or SNPs. Lee and his colleagues at Brigham and Women’s Hospital, Massachusetts General Hospital and The Hospital for Sick Children in Toronto helped turn that notion on its head. In 2004, they identified widespread structural changes in the form of copy number variation within the genomes of otherwise normal individuals, a surprising discovery also reported at that time by Cold Spring Harbor researchers.

Charles Lee

Those revelations paved the way for a systematic look at copy number variation across the human genome by an international consortium that Lee co-founded. Nearly two years after the consortium published a copy number variant (CNV) map of the human genome, these genetic variants can now be screened on a genomic scale, simultaneously with SNPs, to identify ones with potential roles in human health and disease.

“Over the last four years, the field of human structural genomic variation appears to have exploded,” said Lee. “Indeed, more than a dozen CNVs have now been associated with increased susceptibility to human diseases and disorders – including autism and schizophrenia. Over the next few years, I anticipate even more CNV associations in disease susceptibility studies as well as in pharmacogenomic-based investigations.”

Lee is the youngest recipient of the medicine prize and will be honored in an awards ceremony in Seoul, South Korea on June 3. The Ho-Am Prize is awarded each year in five disciplines including arts, community service, engineering, medicine and science. It honors scholars who have made outstanding contributions to their field of study to the better welfare of mankind.